Literature DB >> 25737153

C9ORF72 hexanucleotide repeat number in frontotemporal lobar degeneration: a genotype-phenotype correlation study.

Luisa Benussi, Giacomina Rossi, Michela Glionna, Elisa Tonoli, Elena Piccoli, Silvia Fostinelli, Anna Paterlini, Rosa Flocco, Diego Albani, Roberta Pantieri, Cristina Cereda, Gianluigi Forloni, Fabrizio Tagliavini, Giuliano Binetti, Roberta Ghidoni.   

Abstract

Entities:  

Year:  2015        PMID: 25737153     DOI: 10.3233/JAD-159001

Source DB:  PubMed          Journal:  J Alzheimers Dis        ISSN: 1387-2877            Impact factor:   4.472


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  4 in total

1.  Comprehensive genotyping of the C9orf72 hexanucleotide repeat region in 2095 ALS samples from the NINDS collection using a two-mode, long-read PCR assay.

Authors:  Eran Bram; Kamyab Javanmardi; Kimberly Nicholson; Kristen Culp; Julie R Thibert; Jon Kemppainen; Vivian Le; Annette Schlageter; Andrew Hadd; Gary J Latham
Journal:  Amyotroph Lateral Scler Frontotemporal Degener       Date:  2018-11-15       Impact factor: 4.092

2.  Multiple variants in families with amyotrophic lateral sclerosis and frontotemporal dementia related to C9orf72 repeat expansion: further observations on their oligogenic nature.

Authors:  Maria Pia Giannoccaro; Anna Bartoletti-Stella; Silvia Piras; Annalisa Pession; Patrizia De Massis; Federico Oppi; Michelangelo Stanzani-Maserati; Elena Pasini; Simone Baiardi; Patrizia Avoni; Piero Parchi; Rocco Liguori; Sabina Capellari
Journal:  J Neurol       Date:  2017-06-15       Impact factor: 4.849

3.  Survival and Prognostic Factors in C9orf72 Repeat Expansion Carriers: A Systematic Review and Meta-analysis.

Authors:  Stella A Glasmacher; Charis Wong; Iona E Pearson; Suvankar Pal
Journal:  JAMA Neurol       Date:  2020-03-01       Impact factor: 18.302

4.  C9orf72, age at onset, and ancestry help discriminate behavioral from language variants in FTLD cohorts.

Authors:  Beatrice Costa; Claudia Manzoni; Manuel Bernal-Quiros; Demis A Kia; Miquel Aguilar; Ignacio Alvarez; Victoria Alvarez; Ole Andreassen; Maria Anfossi; Silvia Bagnoli; Luisa Benussi; Livia Bernardi; Giuliano Binetti; Daniel Blackburn; Mercè Boada; Barbara Borroni; Lucy Bowns; Geir Bråthen; Amalia C Bruni; Huei-Hsin Chiang; Jordi Clarimon; Shuna Colville; Maria E Conidi; Tom E Cope; Carlos Cruchaga; Chiara Cupidi; Maria Elena Di Battista; Janine Diehl-Schmid; Monica Diez-Fairen; Oriol Dols-Icardo; Elisabetta Durante; Dušan Flisar; Francesca Frangipane; Daniela Galimberti; Maura Gallo; Maurizio Gallucci; Roberta Ghidoni; Caroline Graff; Jordan H Grafman; Murray Grossman; John Hardy; Isabel Hernández; Guy J T Holloway; Edward D Huey; Ignacio Illán-Gala; Anna Karydas; Behzad Khoshnood; Milica G Kramberger; Mark Kristiansen; Patrick A Lewis; Alberto Lleó; Gaganjit K Madhan; Raffaele Maletta; Aleš Maver; Manuel Menendez-Gonzalez; Graziella Milan; Bruce Miller; Merel O Mol; Parastoo Momeni; Sonia Moreno-Grau; Chris M Morris; Benedetta Nacmias; Christer Nilsson; Valeria Novelli; Linn Öijerstedt; Alessandro Padovani; Suvankar Pal; Yasmin Panchbhaya; Pau Pastor; Borut Peterlin; Irene Piaceri; Stuart Pickering-Brown; Yolande A L Pijnenburg; Annibale A Puca; Innocenzo Rainero; Antonella Rendina; Anna M T Richardson; Ekaterina Rogaeva; Boris Rogelj; Sara Rollinson; Giacomina Rossi; Carola Rossmeier; James B Rowe; Elisa Rubino; Agustín Ruiz; Raquel Sanchez-Valle; Sigrid B Sando; Alexander F Santillo; Jennifer Saxon; Elio Scarpini; Maria Serpente; Nicoletta Smirne; Sandro Sorbi; EunRan Suh; Fabrizio Tagliavini; Jennifer C Thompson; John Q Trojanowski; Vivianna M Van Deerlin; Julie Van der Zee; Christine Van Broeckhoven; Jeroen van Rooij; John C Van Swieten; Arianna Veronesi; Emilia Vitale; Maria L Waldö; Cathy Woodward; Jennifer Yokoyama; Valentina Escott-Price; James M Polke; Raffaele Ferrari
Journal:  Neurology       Date:  2020-09-17       Impact factor: 9.910

  4 in total

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